ClinVar Miner

List of variants in gene KCNQ1 reported as likely pathogenic by Invitae

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Total variants: 25
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HGVS dbSNP
NC_000011.10:g.(?_2587560)_(2587702_?)del
NM_000218.3(KCNQ1):c.1032+2T>C
NM_000218.3(KCNQ1):c.1732+1G>A
NM_181798.1(KCNQ1):c.1134-2_1134-1del rs1564886323
NM_181798.1(KCNQ1):c.1171C>G (p.Arg391Gly) rs17215500
NM_181798.1(KCNQ1):c.1190T>G (p.Val397Gly) rs199472790
NM_181798.1(KCNQ1):c.1304+1G>A rs794728531
NM_181798.1(KCNQ1):c.1305-2A>G rs878854350
NM_181798.1(KCNQ1):c.1316C>T (p.Ser439Phe) rs199472804
NM_181798.1(KCNQ1):c.1321G>C (p.Gly441Arg) rs199472807
NM_181798.1(KCNQ1):c.1513dup (p.Arg505fs) rs397508105
NM_181798.1(KCNQ1):c.176G>A (p.Gly59Asp) rs794728568
NM_181798.1(KCNQ1):c.179T>C (p.Leu60Pro) rs199473399
NM_181798.1(KCNQ1):c.188G>T (p.Arg63Leu) rs120074178
NM_181798.1(KCNQ1):c.224-1G>C rs1564820372
NM_181798.1(KCNQ1):c.231C>G (p.Ile77Met) rs199473455
NM_181798.1(KCNQ1):c.302+1G>A rs1589957233
NM_181798.1(KCNQ1):c.303-2A>C rs1564820729
NM_181798.1(KCNQ1):c.343G>T (p.Asp115Tyr) rs199472712
NM_181798.1(KCNQ1):c.449C>G (p.Ser150Trp) rs199472730
NM_181798.1(KCNQ1):c.49A>G (p.Thr17Ala) rs199473451
NM_181798.1(KCNQ1):c.524C>T (p.Ala175Val) rs193922365
NM_181798.1(KCNQ1):c.541-2A>G rs397508133
NM_181798.1(KCNQ1):c.632C>T (p.Ser211Phe) rs199472758
NM_181798.1(KCNQ1):c.730G>C (p.Ala244Pro) rs199473412

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